Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

Article Abstract:

Novel mutations that cause autosomal recessive (DFNB1) hearing loss have been identified in the connexin 26 (Cx26) gene (GJB2). Fifty-eight multiplex families, in each of which are at least two affected children diagnosed with autosomal recessive nonsyndromic deafness, have been analyzed. The 30delG mutation is behind 10% of all childhood hearing loss and 20% of all childhood hereditary hearing loss. Six novel mutations were found in the affected group. It can be seen that 101T-->C by itself cannot cause hearing loss.

United States, Usage, Genetic aspects, Chromosome mapping, Genetic disorders

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DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency

Article Abstract:

Allele-specific expression of distalless homeobox 5 gene (DLX5) and DLX6 in mouse x human somatic cell hybrids, lymphoblastoid cell lines, and frontal cortex from controls and individuals with MECP2 mutations are evaluated. It is concluded that DLX5 and DLX6 are not imprinted in humans and are not likely to be direct targets of MeCP2 modulation.

Gene expression

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Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele

Article Abstract:

A novel allele that segregates with deafness when present in trans with the 35delG allele of GJB2 is found. Qualitative polymerase chain reaction-based allele-specific expression assays show that expression of both GJB2 and GJB6 from the novel allele is dramatically reduced.

Michigan, Analysis, Diagnosis, Polymerase chain reaction

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